SYMPTOMS: When blood vessels are injured platelets collect over the injured area and form a plug to prevent further bleeding. This plug is formed by a series of proteins, called clotting factors. People with hemophilia have a mutation in the F8 gene which provides instructions for the enzyme that produces clotting factor and their blood does not properly clot. Major symptoms of hemophilia A are excessive bleeding and easy bruising. Other symptoms that could be experienced:
bleeding for long period of time after an accident or injury
spontaneous bleeding
The most common place to have bleeding is the joints (knees, ankles, or elbows). Bleeding can also occur in the muscles, or digestive tract.
HOW TO DIAGNOSE HEMOPHILIA A: The first step is to evaluate the symptoms and review the family history. Other tests include:
Physical examination
Intrauterine DNA testing
Molecular genetic testing
Blood test
Measure clotting factor level in the blood. If it is below 50 percent of normal, you probably are a carrier and have mild hemophilia.
Screening tests to show if the blood is clotting properly.
A person can be healthy (with the gene to produce factor VIII), healthy but a carrier (female without the gene on one x-chromosome), or one with hemophilia A (female without the gene on both x-chromosomes or male without the gene on x-chromosome)
When blood vessels are injured platelets collect over the injured area and form a plug to prevent further bleeding. This plug is formed by a series of proteins, called clotting factors. People with hemophilia have a mutation in the F8 gene which provides instructions for the enzyme that produces clotting factor and their blood does not properly clot. Major symptoms of hemophilia A are excessive bleeding and easy bruising. Other symptoms that could be experienced:
- bleeding for long period of time after an accident or injury
- spontaneous bleeding
The most common place to have bleeding is the joints (knees, ankles, or elbows). Bleeding can also occur in the muscles, or digestive tract.HOW TO DIAGNOSE HEMOPHILIA A:
The first step is to evaluate the symptoms and review the family history. Other tests include:
A person can be healthy (with the gene to produce factor VIII), healthy but a carrier (female without the gene on one x-chromosome), or one with hemophilia A (female without the gene on both x-chromosomes or male without the gene on x-chromosome)